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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Pupil Disorders (D011681)
..Starting node ..Tonic Pupil (D015845)
Child Nodes:
........Adie Syndrome (D000270) 1
Sister Nodes:
..Anisocoria (D015875)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia pupillae (C536185)
..McPherson Robertson Cammarano syndrome (C538161)
..Microcoria, congenital (C537550)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Miosis (D015877) 5
..Mydriasis (D015878) 1
..Pierson syndrome (C537185)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Tonic Pupil (D015845) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11125
Name:	Tonic Pupil
Definition:	A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, 'tonic' constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)
Alternative IDs:
ParentIDs:	MESH:D011681
TreeNumbers:	C10.597.690.575 \|C11.710.800 \|C23.888.592.708.575
Synonyms:	Adie Pupil \|Adie's Pupil \|Adies Pupil \|Myotonic Pupil \|Myotonic Pupils \|Neuropathic Tonic Pupil \|Neuropathic Tonic Pupils \|Pupil, Adie \|Pupil, Adie's \|Pupil, Local Tonic \|Pupillotonia \|Pupillotonias \|Pupil, Myotonic \|Pupil, Neuropathic Tonic \|Pupils, Adie's \|Pupils, Lo
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D015845 MeSH: D015845 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants